7:55 am Chairperson’s Opening Remarks

Utilizing Clinical Lessons Learned to Maximise Trial Design

8:00 am Leveraging Natural History Studies in Clinical Trial Design for Rare CNS and Neurodevelopmental Disorders


  • Despite common traits and symptoms, each NDD displays a high variability in their phenotype (e.g. ASD, Down syndrome, Rett syndrome, CDD)
  • Characterizing this disease variability together with potential endpoints evaluation is critical before embarking into drug development
  • Exploring case studies of how observational / natural history studies in NDD helped to improve early and late stage clinical trials

8:30 am Lessons learned from the Short Falls in Autism and Fragile X Clinical Research


  • Exploring where Fragile X clinical research fell short from outcomes to biomarkers
  • Navigating the regulatory research framework used in the clinic
  • Patient stratification in idiopathic and rare disease NDDs patient population

9:00 am Language Outcome Measures and Language Learning Interventions in Fragile X Syndrome

  • Leonard Abbeduto Director & Professor, MIND Institute, Psychiatry and Behavioural Sciences, University of California Davis


  • Exploring the functional value of language and why it should be the target of treatment research for Fragile X syndrome
  • Presenting psychometric data supporting Expressive Language Sampling (ELS) as an outcome measure in treatment studies for Fragile X syndrome and other intellectual disabilities
  • The benefits of combining medications with environmental enrichment in clinical studies, exploring research on a telehealth-delivered language intervention for Fragile X syndrome as an example

9:30 am Morning Break & Networking

Exploring Evolving Clinical Outcome Measures & Endpoints

10:30 am Re-defined Outcome Measures, a Case Study

  • Heather Lau Executive Director Global Clinical Development, Ultragenyx


  • Exploring how validated outcome measures have been redefined in CDKL5
  • Understanding the challenges in outcome measure development and what the future holds across rare CNS and neurodevelopmental disorders

11:00 am Panel Discussion – How Can We Gain Consensus on Developing Patient Centric Outcome Measures for Rare Neurodevelopmental Indications?

  • Heather Lau Executive Director Global Clinical Development, Ultragenyx
  • Jana Von Hehn Chief Scientific Officer, Rett Syndrome Research Trust
  • Susanne Clinch Principal Patient Centered Outcomes Research Scientist, Roche
  • Xavier Liogier Chief of Translational Science, Loulou Foundation

11:45 am Biosensors: Using Wearables and Invisables to Develop Digital Biomarkers for Rett Syndrome

  • Jana Von Hehn Chief Scientific Officer, Rett Syndrome Research Trust


  • Exploring the application of biosensors to capture and quantify autonomic dysfunction in Rett syndrome
  • Results of preliminary studies suggest heart rate variability, breathing irregularities, sleep, and motion have the potential to become objective measures of symptom severity in clinical trials

12:15 pm Lunch Break & Networking

Leveraging the Latest Biomarker Technologies

1:15 pm Implementing Genetic Analysis in Clinical Trials to Illuminate Genetic Biomarkers in Rett Syndrome


  • Implementing and executing clinical trial protocol for genetic analysis
  • Exploring whole blood transcriptomics analysis
  • Analysis of clinical endpoints and biomarkers of response

1:45 pm Exploring BK Channelopathies in Fragile X and Other Genetic Syndromes Impacting Neurodevelopment to Illuminate New Frontiers for Functional Biomarkers

  • Robert Ring Chief Scientific Officer, Kaerus Bioscience


  • Laying out the rationale for targeting BK channels in therapeutic development for Fragile X and related genetic syndromes of neurodevelopment
  • Introducing the use of electroretinography (ERG) as a quantitative biomarker for advancing BK channel therapeutics

2:15 pm Comfort Break

2:25 pm Investigation of Translatable EEG Biomarkers in a Mouse Model of Rett Syndrome


  • Characterizing phenotypes in mouse models of neurodevelopmental disorders
  • Using quantitative EEG to investigate biomarkers of brain dysfunction and treatment efficacy
  • Analysis of evoked potentials and epileptiform activity in mouse models and assessing their relationship with findings in patients

Symptomatic vs Genetic Disease Modifying Treatments – What is the Future Landscape?

2:55 pm Panel Discussion – Pros and Cons of NDDs and Genetic Epilepsies Treatment Modalities: Gene Therapy, ASOs & Small Molecule Approaches

  • Gopi Shanker Chief Scientific Officer, Tevard Biosciences
  • Tracy Cole Senior Director, Research and Development, n-Lorem
  • Robert Ring Chief Scientific Officer, Kaerus Bioscience


In a landscape where potential therapeutic modalities for rare CNS and neurodevelopmental disorders are fast evolving, where should we really be focusing our attention? Exploring the successes and caveats from traditional small molecule therapies to emerging ASO and gene therapy treatments.

3:40 pm Chairperson’s Closing Remarks

3:50 pm End of Conference